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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 5-180603221-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=180603221&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 180603221,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_182925.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.4063G>T",
"hgvs_p": "p.Val1355Leu",
"transcript": "NM_182925.5",
"protein_id": "NP_891555.2",
"transcript_support_level": null,
"aa_start": 1355,
"aa_end": null,
"aa_length": 1363,
"cds_start": 4063,
"cds_end": null,
"cds_length": 4092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261937.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182925.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.4063G>T",
"hgvs_p": "p.Val1355Leu",
"transcript": "ENST00000261937.11",
"protein_id": "ENSP00000261937.6",
"transcript_support_level": 1,
"aa_start": 1355,
"aa_end": null,
"aa_length": 1363,
"cds_start": 4063,
"cds_end": null,
"cds_length": 4092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_182925.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261937.11"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.4339G>T",
"hgvs_p": "p.Val1447Leu",
"transcript": "ENST00000955857.1",
"protein_id": "ENSP00000625916.1",
"transcript_support_level": null,
"aa_start": 1447,
"aa_end": null,
"aa_length": 1455,
"cds_start": 4339,
"cds_end": null,
"cds_length": 4368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955857.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.4129G>T",
"hgvs_p": "p.Val1377Leu",
"transcript": "ENST00000861588.1",
"protein_id": "ENSP00000531647.1",
"transcript_support_level": null,
"aa_start": 1377,
"aa_end": null,
"aa_length": 1385,
"cds_start": 4129,
"cds_end": null,
"cds_length": 4158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861588.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.4117G>T",
"hgvs_p": "p.Val1373Leu",
"transcript": "ENST00000955858.1",
"protein_id": "ENSP00000625917.1",
"transcript_support_level": null,
"aa_start": 1373,
"aa_end": null,
"aa_length": 1381,
"cds_start": 4117,
"cds_end": null,
"cds_length": 4146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955858.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.4081G>T",
"hgvs_p": "p.Val1361Leu",
"transcript": "ENST00000937381.1",
"protein_id": "ENSP00000607440.1",
"transcript_support_level": null,
"aa_start": 1361,
"aa_end": null,
"aa_length": 1369,
"cds_start": 4081,
"cds_end": null,
"cds_length": 4110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937381.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.4294G>T",
"hgvs_p": "p.Val1432Leu",
"transcript": "XM_011534478.4",
"protein_id": "XP_011532780.1",
"transcript_support_level": null,
"aa_start": 1432,
"aa_end": null,
"aa_length": 1440,
"cds_start": 4294,
"cds_end": null,
"cds_length": 4323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534478.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.3985G>T",
"hgvs_p": "p.Val1329Leu",
"transcript": "XM_017009268.2",
"protein_id": "XP_016864757.1",
"transcript_support_level": null,
"aa_start": 1329,
"aa_end": null,
"aa_length": 1337,
"cds_start": 3985,
"cds_end": null,
"cds_length": 4014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009268.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.3604G>T",
"hgvs_p": "p.Val1202Leu",
"transcript": "XM_011534484.3",
"protein_id": "XP_011532786.1",
"transcript_support_level": null,
"aa_start": 1202,
"aa_end": null,
"aa_length": 1210,
"cds_start": 3604,
"cds_end": null,
"cds_length": 3633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534484.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "c.*209G>T",
"hgvs_p": null,
"transcript": "XM_017009263.2",
"protein_id": "XP_016864752.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1385,
"cds_start": null,
"cds_end": null,
"cds_length": 4158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009263.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"hgvs_c": "n.763G>T",
"hgvs_p": null,
"transcript": "ENST00000502603.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000502603.5"
}
],
"gene_symbol": "FLT4",
"gene_hgnc_id": 3767,
"dbsnp": "rs143739828",
"frequency_reference_population": 6.8413493e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84135e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0653771460056305,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.152,
"revel_prediction": "Benign",
"alphamissense_score": 0.0919,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.529,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_182925.5",
"gene_symbol": "FLT4",
"hgnc_id": 3767,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4063G>T",
"hgvs_p": "p.Val1355Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}